4th Pediatric Infectious Diseases Conference
 
 
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Specialist Answers
Question
Dear sir, what would be the differential diagnosis of a child who is very well nourished but coming in with a symptoms of wet beri-beri (cardiomyopathy with right heart failure)and improving tremendously with oral thiamine and being discharged. This child does not have any evidence of any other vitamin or mineral deficiency or PEm and comes froma well of family. But this child is developmentally delayed but not dysmorphic.
Answer
Two possibilities are :
Lactic Acidosis and leading to cardiomyopathy that is responsive to thiamine.
2) Thiamine-responsive megaloblastic anemia syndrome (TRMA). TRMA is characterized by sensorineural deafness, diabetes mellitus, megaloblastic anemia, and cardiomyopathy.

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